" /> Pallister-killian syndrome - CISMeF





Preferred Label : Pallister-killian syndrome;

Symbol : PKS;

CISMeF acronym : PKS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tetrasomy 12p, mosaic; Isochromosome 12p syndrome;

Included titles and symbols : Hexasomy 12p, mosaic;

Description : Pallister-Killian syndrome is a dysmorphic condition involving most organ systems, but also characterized by a tissue-limited mosaicism; most fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. The extra metacentric chromosome is an isochromosome for part of the short arm of chromosome 12: i(12)(p10) (Peltomaki et al., 1987; Warburton et al., 1987).;

Inheritance : Somatic mosaicism;

Molecular basis : Contiguous gene syndrome caused by mosaicism for tetrasomy of chromosome 12p;

Laboratory abnormalities : Mosaic tetrasomy 12p in skin fibroblasts; Isochromosome often missing in lymphocyte;

Prefixed ID : #601803;

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30/07/2025


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